Buschke‐Ollendorff syndrome due to a novel LEMD3 mutation – an unusual case of alopecia

Buschke‐Ollendorff syndrome due to a novel LEMD3 mutation – an unusual case of alopecia
Darr‐Foit, Susanne; Schliemann, Sibylle; Schulz, Solveig; Elsner, Peter
2018-01-01 00:00:00
Clinical Letter Buschke-Ollendorff syndrome due to a novel LEMD3 mutation – an unusual case of alopecia DOI: 10.1111/ddg.13446 Dear Editors, Buschke-Ollendorff syndrome (BOS) (OMIM 166700) is an autosomal dominant connective tissue disorder that was first described in 1928 by Abraham Buschke and Helene Ollen- dorff-Curth. It is defined by the coexistence of connective Figure 1 Triangular, completely hairless yellowish plaque with tissue nevi and osteopoikilosis with a good prognosis. Skin a diameter of 10 cm on the occiput of a 60-year-old woman. and skeletal lesions may occur independently [1–3] since af- fected persons may not express the full phenotype. Here we describe the unusual case of a 60-year-old woman with iso- lated nevus elasticus and a mutation in the LEMD3 (LEM the occipital bone underlying the affected skin. Recent radio- Domain Containing 3) gene. graphs of the spine, hands and feet revealed no foci of fibrosis The patient presented after years of failed topical treat- or sclerosis but evidence of degenerative changes. ment with external corticosteroids. She reported a hairless Based on these findings we suspected Buschke-Ollen - area at the occiput with a history of 25 years, and a second dorff syndrome (BOS). lesion nearby that appeared two
http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.pngJournal Der Deutschen Dermatologischen GesellschaftWileyhttp://www.deepdyve.com/lp/wiley/buschke-ollendorff-syndrome-due-to-a-novel-lemd3-mutation-an-unusual-S6cySlEJ3j

Buschke‐Ollendorff syndrome due to a novel LEMD3 mutation – an unusual case of alopecia

Abstract

Clinical Letter Buschke-Ollendorff syndrome due to a novel LEMD3 mutation – an unusual case of alopecia DOI: 10.1111/ddg.13446 Dear Editors, Buschke-Ollendorff syndrome (BOS) (OMIM 166700) is an autosomal dominant connective tissue disorder that was first described in 1928 by Abraham Buschke and Helene Ollen- dorff-Curth. It is defined by the coexistence of connective Figure 1 Triangular, completely hairless yellowish plaque with tissue nevi and osteopoikilosis with a good prognosis. Skin a diameter of 10 cm on the occiput of a 60-year-old woman. and skeletal lesions may occur independently [1–3] since af- fected persons may not express the full phenotype. Here we describe the unusual case of a 60-year-old woman with iso- lated nevus elasticus and a mutation in the LEMD3 (LEM the occipital bone underlying the affected skin. Recent radio- Domain Containing 3) gene. graphs of the spine, hands and feet revealed no foci of fibrosis The patient presented after years of failed topical treat- or sclerosis but evidence of degenerative changes. ment with external corticosteroids. She reported a hairless Based on these findings we suspected Buschke-Ollen - area at the occiput with a history of 25 years, and a second dorff syndrome (BOS). lesion nearby that appeared two